Unique variants in gene SYNE1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_182961.3 transcript reference sequence.

1090 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 6 6, 104, 77, 127, 140, 134 c.? r.? p.? - VUS g.? - 758A>G (N253S), 1929A>G (N6432S), 1376C>A (F4592L), 2304G>A (V7683I), 2519G>A (D8400N), 1 more item - LAMA2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.-529C>T r.(?) p.(=) - benign g.152958461G>A g.152637326G>A - - SYNE1_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 5' UTR c.-9G>T r.(?) p.(=) - VUS g.152949475C>A g.152628340C>A - - SYNE1_000853 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 129i c.(23301+1_23302-1)C>T r.(?) p.(=) - benign g.(152501430_152510386)G>A - g.471967G>A - SYNE1_000043 - PubMed: Gros-Louis 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 136i c.(24642+1_24643-1)C>T r.(?) p.(=) - benign g.(152469514_152470611)G>A - g.482601C>T - SYNE1_000044 - PubMed: Gros-Louis 2007 - - Germline - - - - - Johan den Dunnen
?/. 3 2 c.23C>T r.(?) p.(Ser8Phe) - VUS g.152949444G>A g.152628309G>A - - SYNE1_000852 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.25C>T r.(?) p.(Arg9Trp) - VUS g.152949442G>A g.152628307G>A SYNE1(NM_182961.3):c.25C>T (p.R9W) - SYNE1_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.38del r.(?) p.(Asp13Valfs*5) - pathogenic g.152949429del g.152628294del - - SYNE1_000033 - - - - Unknown - - - - - IMGAG
?/. 1 3 c.68A>G r.(?) p.(Asp23Gly) - VUS g.152861156T>C g.152540021T>C - - SYNE1_000851 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.93A>G r.(?) p.(Arg31=) - likely benign g.152861131T>C g.152539996T>C - - SYNE1_001074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.116C>G r.(?) p.(Ser39Cys) - VUS g.152861108G>C g.152539973G>C - - SYNE1_000850 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.118C>T r.(?) p.(His40Tyr) - VUS g.152861106G>A g.152539971G>A SYNE1(NM_182961.3):c.118C>T (p.H40Y) - SYNE1_000299 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
?/. 1 - c.148G>T r.(?) p.(Val50Leu) - VUS g.152847292C>A - SYNE1(NM_182961.3):c.148G>T (p.V50L) - SYNE1_001106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 3 - c.156T>C r.(?) p.(Asp52=) - likely benign, benign g.152847284A>G g.152526149A>G SYNE1(NM_182961.3):c.156T>C (p.D52=) - SYNE1_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.216G>A r.(?) p.(Gly72=) - likely benign g.152847224C>T g.152526089C>T SYNE1(NM_182961.3):c.216G>A (p.G72=) - SYNE1_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., +/. 3 4i c.226-2dup r.spl? p.? - VUS, pathogenic g.152841679dup g.152520544dup 226-2dupA, SYNE1(NM_182961.3):c.226-2dupA, SYNE1(NM_182961.3):c.226-3_226-2insA - SYNE1_000298 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 5 c.245G>T r.(?) p.(Arg82Leu) - VUS g.152841658C>A g.152520523C>A - - SYNE1_000849 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.253C>T r.(?) p.(Arg85Ter) - pathogenic g.152841650G>A g.152520515G>A SYNE1(NM_182961.3):c.253C>T (p.R85*) - SYNE1_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 5 c.290A>G r.(?) p.(Lys97Arg) - VUS g.152841613T>C g.152520478T>C - - SYNE1_000848 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 6i c.309+1G>A r.spl p.? - pathogenic (recessive) g.152841593C>T g.152520458C>T NM_033071.3:c.309+1G>A - SYNE1_000903 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.309+9_309+10del r.(=) p.(=) - likely benign g.152841589_152841590del g.152520454_152520455del SYNE1(NM_182961.3):c.309+9_309+10delGA - SYNE1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.310-469C>T r.(?) p.(=) - VUS g.152832707G>A g.152511572G>A - - SYNE1_000847 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.310-468G>A r.(=) p.(=) - likely benign g.152832706C>T g.152511571C>T SYNE1(NM_033071.3):c.330G>A (p.(=)) - SYNE1_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.323A>G r.(?) p.(Asn108Ser) - pathogenic (dominant) g.152832225T>C g.152511090T>C 323C>T (N108S) - SYNE1_000861 - PubMed: Fanin 2015 - - Germline yes - - - - Johan den Dunnen
?/. 1 7 c.334A>T r.(?) p.(Thr112Ser) - VUS g.152832214T>A g.152511079T>A - - SYNE1_000846 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.337G>A r.(?) p.(Asp113Asn) - VUS g.152832211C>T g.152511076C>T - - SYNE1_000845 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.338A>G r.(?) p.(Asp113Gly) - VUS g.152832210T>C g.152511075T>C - - SYNE1_000844 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.340A>G r.(?) p.(Ile114Val) - VUS g.152832208T>C g.152511073T>C - - SYNE1_000843 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 - c.352C>T r.(?) p.(Arg118Ter), p.(Arg118*) - pathogenic, pathogenic (recessive) g.152832196G>A g.152511061G>A NM_033071.3:c.810C>CT (R125X) - SYNE1_000862 VKGL data sharing initiative Nederland PubMed: Noreau 2013 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Johan den Dunnen
+/. 1 7 c.374T>A r.0 p.0 - pathogenic (recessive) g.152832174A>T g.152511039A>T NM_033071.3:c.395T>A - SYNE1_000860 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.379T>A r.(?) p.(Trp127Arg) - VUS g.152832169A>T g.152511034A>T SYNE1(NM_182961.3):c.379T>A (p.W127R) - SYNE1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.395A>G r.(?) p.(Tyr132Cys) - VUS g.152832153T>C g.152511018T>C - - SYNE1_000842 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.402+11A>G r.(=) p.(=) - benign g.152832135T>C g.152511000T>C SYNE1(NM_182961.3):c.402+11A>G - SYNE1_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 8 c.495C>A r.(?) p.(Ser165Arg) - VUS g.152831414G>T g.152510279G>T - - SYNE1_000841 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.508C>T r.(?) p.(Arg170Trp) - VUS g.152831401G>A g.152510266G>A - - SYNE1_000840 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.532G>C r.(?) p.(Gly178Arg) - likely pathogenic (recessive) g.152831377C>G g.152510242C>G G553C - SYNE1_000867 - PubMed: Izumi 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.561G>T r.(?) p.(Trp187Cys) - VUS g.152831348C>A - SYNE1(NM_033071.3):c.582G>T (p.W194C) - SYNE1_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 9 c.590G>A r.(?) p.(Gly197Glu) - VUS g.152826524C>T g.152505389C>T - - SYNE1_000839 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 9 c.638T>C r.(?) p.(Phe213Ser) - pathogenic (recessive) g.152826476A>G g.152505341A>G NM_033071.3:c.659T>C - SYNE1_000902 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.646G>T r.(?) p.(Val216Phe) - VUS g.152826468C>A g.152505333C>A SYNE1(NM_182961.3):c.646G>T (p.V216F) - SYNE1_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9 c.661C>T r.(?) p.(Arg221*) - pathogenic (recessive) g.152826453G>A g.152505318G>A NM_033071.3:c.682C>T - SYNE1_000901 - PubMed: Synofzik 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 9 c.706C>T r.(?) p.(Arg236*) - pathogenic (recessive) g.152826408G>A g.152505273G>A NM_033071.3:c.727C>T - SYNE1_000900 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 10 c.781G>A r.(?) p.(Val261Ile) - VUS g.152823875C>T g.152502740C>T - - SYNE1_000838 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.797C>A r.(?) p.(Pro266Gln) - VUS g.152823859G>T g.152502724G>T - - SYNE1_000837 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.862G>A r.(?) p.(Ala288Thr) - VUS g.152823794C>T g.152502659C>T - - SYNE1_000836 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 11 c.939G>T r.(?) p.(Lys313Asn) - VUS g.152819877C>A g.152498742C>A - - SYNE1_000835 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.939+2T>C r.spl? p.? - VUS g.152819875A>G g.152498740A>G SYNE1(NM_182961.3):c.939+2T>C - SYNE1_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 12 c.941G>T r.(?) p.(Arg314Ile) - VUS g.152809637C>A g.152488502C>A - - SYNE1_000834 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 12 c.1038T>C r.(?) p.(=) - VUS g.152809540A>G g.152488405A>G - - SYNE1_000833 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 4 - c.1047+4T>A r.spl? p.? - benign g.152809527A>T g.152488392A>T SYNE1(NM_182961.3):c.1047+4T>A - SYNE1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.1047+6G>A r.(=) p.(=) - likely benign g.152809525C>T g.152488390C>T SYNE1(NM_182961.3):c.1047+6G>A - SYNE1_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1113A>G r.(?) p.(Pro371=) - likely benign g.152806042T>C g.152484907T>C SYNE1(NM_182961.3):c.1113A>G (p.P371=) - SYNE1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 10 13 c.1141G>A r.(?) p.(Asp381Asn) - likely benign, VUS g.152806014C>T g.152484879C>T SYNE1(NM_182961.3):c.1141G>A (p.D381N) - SYNE1_000290 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted, PubMed: Nallamilli 2018 - rs146366996 Germline, CLASSIFICATION record - 1/2795 individuals - - - Mohammed Faruq, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 14 c.1186C>G r.(?) p.(Leu396Val) - VUS g.152804384G>C g.152483249G>C - - SYNE1_000832 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1215A>T r.(?) p.(Lys405Asn) - VUS g.152804355T>A - SYNE1(NM_182961.3):c.1215A>T (p.K405N) - SYNE1_001105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1304A>G r.(?) p.(His435Arg) - VUS g.152804266T>C g.152483131T>C SYNE1(NM_182961.3):c.1304A>G (p.H435R) - SYNE1_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 14 c.1322C>T r.(?) p.(Thr441Met) - VUS g.152804248G>A g.152483113G>A - - SYNE1_000831 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 14 c.1330C>T r.(?) p.(Arg444Trp) - VUS g.152804240G>A g.152483105G>A - - SYNE1_000830 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 15 c.1391A>G r.(?) p.(His464Arg) - VUS g.152793508T>C g.152472373T>C - - SYNE1_000829 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1420G>A r.(?) p.(Gly474Arg) - VUS g.152793479C>T g.152472344C>T SYNE1(NM_182961.3):c.1420G>A (p.G474R) - SYNE1_001073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1428A>G r.(?) p.(Pro476=) - likely benign g.152793471T>C g.152472336T>C SYNE1(NM_182961.3):c.1428A>G (p.P476=) - SYNE1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1431G>T r.(?) p.(Val477=) - likely benign g.152793468C>A g.152472333C>A - - SYNE1_001072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1483A>G r.(?) p.(Thr495Ala) - likely benign g.152792881T>C g.152471746T>C SYNE1(NM_182961.3):c.1483A>G (p.T495A) - SYNE1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1544T>A r.(?) p.(Leu515Gln) - VUS g.152792820A>T g.152471685A>T SYNE1(NM_182961.3):c.1544T>A (p.L515Q) - SYNE1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 16i c.1633-81T>C r.(?) p.(=) - benign g.152787294A>G g.152466159A>G g.162173T>C - SYNE1_000038 - PubMed: Gros-Louis 2007 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1665A>C r.(?) p.(Gln555His) - VUS g.152787181T>G g.152466046T>G SYNE1(NM_182961.3):c.1665A>C (p.Q555H) - SYNE1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 17 c.1694A>G r.(?) p.(Gln565Arg) - VUS g.152787152T>C g.152466017T>C - - SYNE1_000828 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.1702G>T r.(?) p.(Glu568Ter) - pathogenic g.152787144C>A g.152466009C>A - - SYNE1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1708T>C r.(?) p.(Tyr570His) - VUS g.152787138A>G g.152466003A>G - - SYNE1_001071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 17 c.1723G>T r.(?) p.(Gly575Cys) - VUS g.152787123C>A g.152465988C>A - - SYNE1_000827 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 17i c.1729+91C>T r.(?) p.(=) - benign g.152787026G>A g.152465891G>A g.162441C>T - SYNE1_000037 - PubMed: Gros-Louis 2007 - - Germline - 1/190 - - - Johan den Dunnen
?/. 2 17i c.1730-7G>A r.spl?, r.spl p.(=) - VUS g.152786602C>T g.152465467C>T - - SYNE1_000826 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1838C>T r.(?) p.(Ser613Phe) - likely benign g.152786487G>A g.152465352G>A SYNE1(NM_033071.3):c.1859C>T (p.(Ser620Phe)) - SYNE1_001006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1878A>G r.(?) p.(Gln626=) - likely benign g.152786447T>C g.152465312T>C SYNE1(NM_182961.3):c.1878A>G (p.Q626=) - SYNE1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/. 1 18 c.1912C>T r.(?) p.(Gln638*) - pathogenic g.152786413G>A g.152465278G>A - - SYNE1_000825 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., -?/. 4 19 c.1964A>G r.(?) p.(Gln655Arg) - likely pathogenic, likely benign g.152784621T>C g.152463486T>C SYNE1(NM_033071.3):c.1985A>G (p.(Gln662Arg)), SYNE1(NM_182961.3):c.1964A>G (p.Q655R) - SYNE1_000342 VKGL data sharing initiative Nederland PubMed: Schuurs-Hoeijmakers 2013 - - Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/., -/. 2 - c.1983C>T r.(?) p.(Asn661=) - likely benign, benign g.152784602G>A g.152463467G>A SYNE1(NM_182961.3):c.1983C>T (p.N661=) - SYNE1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 19 c.2030G>A r.(?) p.(Arg677His) - VUS g.152784555C>T g.152463420C>T - - SYNE1_000824 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 19 c.2065C>A r.(?) p.(=) - VUS g.152784520G>T g.152463385G>T - - SYNE1_000823 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2098-3C>T r.spl? p.? - likely benign g.152784028G>A - SYNE1(NM_182961.3):c.2098-3C>T - SYNE1_001091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 20 c.2154del r.(?) p.(Thr719Profs*17) - likely pathogenic g.152783970del g.152462835del 2175delT - SYNE1_000822 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2174C>T r.(?) p.(Thr725Met) - likely benign g.152783949G>A g.152462814G>A SYNE1(NM_182961.3):c.2174C>T (p.T725M) - SYNE1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2177A>G r.(?) p.(Glu726Gly) - likely benign g.152783946T>C - SYNE1(NM_182961.3):c.2177A>G (p.E726G) - SYNE1_001104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 20 c.2210T>C r.(?) p.(Val737Ala) - VUS g.152783913A>G g.152462778A>G SYNE1(NM_182961.3):c.2210T>C (p.V737A) - SYNE1_000821 VKGL data sharing initiative Nederland, no second variant PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Madhuri Hegde
-?/. 1 - c.2221A>C r.(?) p.(Asn741His) - likely benign g.152783902T>G g.152462767T>G SYNE1(NM_033071.3):c.2242A>C (p.(Asn748His)) - SYNE1_001005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2360C>T r.(?) p.(Ala787Val) - VUS g.152782766G>A g.152461631G>A SYNE1(NM_182961.3):c.2360C>T (p.A787V) - SYNE1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2386C>G r.(?) p.(Leu796Val) - VUS g.152782740G>C g.152461605G>C SYNE1(NM_182961.3):c.2386C>G (p.L796V) - SYNE1_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2395G>A r.(?) p.(Val799Ile) - likely benign g.152780065C>T g.152458930C>T SYNE1(NM_182961.3):c.2395G>A (p.V799I) - SYNE1_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2474C>T r.(?) p.(Thr825Met) - likely benign g.152779986G>A g.152458851G>A SYNE1(NM_033071.3):c.2495C>T (p.(Thr832Met)) - SYNE1_001003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., -/. 5 - c.2527C>T r.(?) p.(Arg843Cys) - likely benign, benign g.152779933G>A g.152458798G>A SYNE1(NM_182961.3):c.2527C>T (p.R843C) - SYNE1_000279 124 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs34610829 Germline, CLASSIFICATION record - 124/2795 individuals, 2/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.2528G>A r.(?) p.(Arg843His) - likely benign g.152779932C>T g.152458797C>T SYNE1(NM_182961.3):c.2528G>A (p.R843H) - SYNE1_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 22i c.2568+3G>A r.spl p.? - VUS g.152779889C>T g.152458754C>T - - SYNE1_000820 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.2569-640C>T r.(=) p.(=) - benign g.152777819G>A g.152456684G>A SYNE1(NM_182961.3):c.2569-640C>T - SYNE1_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2569-8C>T r.(=) p.(=) - likely benign g.152777187G>A g.152456052G>A SYNE1(NM_182961.3):c.2569-8C>T - SYNE1_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 23 c.2608A>T r.(?) p.(Thr870Ser) - VUS g.152777140T>A g.152456005T>A - - SYNE1_000819 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 4 23 c.2630A>G r.(?) p.(Gln877Arg) - VUS g.152777118T>C g.152455983T>C - - SYNE1_000818 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2651C>A r.(?) p.(Thr884Asn) - likely benign g.152777097G>T g.152455962G>T SYNE1(NM_182961.3):c.2651C>A (p.T884N) - SYNE1_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2653T>A r.(?) p.(Leu885Met) - VUS g.152777095A>T - SYNE1(NM_182961.3):c.2653T>A (p.L885M) - SYNE1_001103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2653T>G r.(?) p.(Leu885Val) - benign g.152777095A>C g.152455960A>C SYNE1(NM_182961.3):c.2653T>G (p.L885V) - SYNE1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 2 - c.2685G>A r.(?) p.(Thr895=) - likely benign g.152777063C>T g.152455928C>T SYNE1(NM_182961.3):c.2685G>A (p.T895=) - SYNE1_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
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